Fetus with unbalanced translocation involving chromosomes 2 and 11. 1992

A M Norman, and A P Read, and A Clark, and J Haslam, and D Donnai
Regional Genetic Service, Manchester, UK.

We report a fetus with an unbalanced translocation between chromosomes 2 and 11, the product of a paternal balanced reciprocal translocation, fetal karyotype 46, XX, -11, +der(11)t(2;11) (q35;q24.1)pat. The fetus had unusual facial features. The relevance of this case to mapping of the type I Waardenburg syndrome gene is discussed.

UI MeSH Term Description Entries
D002880 Chromosomes, Human, Pair 11 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 11
D002889 Chromosomes, Human, Pair 2 A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. Chromosome 2
D005260 Female Females
D005333 Fetus The unborn young of a viviparous mammal, in the postembryonic period, after the major structures have been outlined. In humans, the unborn young from the end of the eighth week after CONCEPTION until BIRTH, as distinguished from the earlier EMBRYO, MAMMALIAN. Fetal Structures,Fetal Tissue,Fetuses,Mummified Fetus,Retained Fetus,Fetal Structure,Fetal Tissues,Fetus, Mummified,Fetus, Retained,Structure, Fetal,Structures, Fetal,Tissue, Fetal,Tissues, Fetal
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D014178 Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic
D014849 Waardenburg Syndrome Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. Klein-Waardenburg Syndrome,Waardenburg's Syndrome,Klein Syndrome,Klein's Syndrome,Waardenburg Syndrome Type 1,Waardenburg Syndrome Type 3,Waardenburg Syndrome with Dystopia Canthorum,Waardenburg Syndrome with Upper Limb Anomalies,Waardenburg Syndrome, Type 1,Waardenburg Syndrome, Type 3,Waardenburg Syndrome, Type III,Waardenburg's Syndrome Type 1,Waardenburg-Klein Syndrome,White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations,Klein Waardenburg Syndrome,Kleins Syndrome,Syndrome, Klein,Syndrome, Klein's,Syndrome, Klein-Waardenburg,Syndrome, Waardenburg,Syndrome, Waardenburg's,Syndrome, Waardenburg-Klein,Waardenburg Klein Syndrome,Waardenburgs Syndrome

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